Product Details

SNP ID
rs139723037
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:136863392 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCATGGTGCAGCTCCTCTGTCTCCC[A/G]GTCCAGCTTGGCCGTGTTCTTGGTA
Phenotype
MIM: 605107
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
EDF1 PubMed Links

Gene Details

Gene
EDF1
Gene Name
endothelial differentiation related factor 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001281297.1 265 Missense Mutation CGG,TGG R63W NP_001268226.1
NM_001281298.1 265 Missense Mutation CGG,TGG R63W NP_001268227.1
NM_001281299.1 265 Missense Mutation CGG,TGG R63W NP_001268228.1
NM_003792.3 265 Missense Mutation CGG,TGG R63W NP_003783.1
NM_153200.2 265 Missense Mutation CGG,TGG R63W NP_694880.1
Gene
MAMDC4
Gene Name
MAM domain containing 4
There are no transcripts associated with this gene.

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